BBOX1

GENE INFORMATION

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Gene name

BBOX1 (HGNC Symbol)

Synonyms

BBH, BBOX, G-BBH, gamma-BBH

Description

Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (HGNC Symbol)

Entrez gene summary

This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]

Chromosome

11

Cytoband

p14.2

Chromosome location (bp)

27040725 - 27127809

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000129151 (version 78.38)

Entrez gene

8424

UniProt

O75936 (UniProt - Evidence at protein level)

neXtProt

NX_O75936

Antibodypedia

BBOX1 antibodies
 

PROTEIN VIEW

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BBOX1-001
 
BBOX1-002
 
BBOX1-004
 
BBOX1-006
 
BBOX1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BBOX1-001 ENSP00000435781
ENST00000529202
O75936
Show all »
Show » Show » 387 44.7 No 0
BBOX1-002 ENSP00000434918
ENST00000528583
O75936
Show all »
Show » Show » 387 44.7 No 0
BBOX1-004 ENSP00000433772
ENST00000525090
O75936
Show all »
Show » Show » 387 44.7 No 0
BBOX1-006 ENSP00000435369
ENST00000533566
E9PKC9
Show all »
Show » 68 7.6 No 0
BBOX1-201 ENSP00000263182
ENST00000263182
O75936
Show all »
Show » Show » 387 44.7 No 0